Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44559332G>A , CM000679.2:g.44559332G>A | GRCh38 |
| NC_000017.10:g.42636700G>A , CM000679.1:g.42636700G>A | GRCh37 |
| NC_000017.9:g.39992226G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001466.4:c.1644G>A MANE Select | NP_001457.1:p.Trp548Ter |
| ENST00000315323.5:c.1644G>A MANE Select | ENSP00000323901.3:p.Trp548Ter |
| NM_001466.3:c.1644G>A | NP_001457.1:p.Trp548Ter |
| ENST00000315323.4:c.1644G>A | ENSP00000323901.3:p.Trp548Ter |